title: Genetic influences in the epilepsies. Review of the literature with practical implications.
abstract: We review hereditary influences in the epilepsies from the perspective of medical genetics. The recurrence risk for epilepsy in close relatives may vary from 2% to 5% up to 50% depending on the etiology of the seizure disorder in the proband. We emphasize the identification of specific disorders with single-gene inheritance that will lead to useful conclusions regarding treatment, prognosis, and family counseling. Also discussed are chromosomal aberrations, polygenic inheritance, gene-environment interactions, animal models of epilepsy, and the pharmacogenetics of anticonvulsants.
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004195:Disease Models, Animal; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics; D014960:X Chromosome